IL1RAPL1
0.580
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
65109
Gene Symbol:
UPF3B
UPF3B
0.520
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
7592
Gene Symbol:
ZNF41
ZNF41
0.520
Biomarker
disease
GENOMICS_ENGLAND
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
23871722
2013
×
Entrez Id:
7552
Gene Symbol:
ZNF711
ZNF711
0.520
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
116442
Gene Symbol:
RAB39B
RAB39B
0.510
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
641339
Gene Symbol:
ZNF674
ZNF674
0.510
Biomarker
disease
GENOMICS_ENGLAND
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
23871722
2013
×
Entrez Id:
6855
Gene Symbol:
SYP
SYP
0.500
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.340
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
9203
Gene Symbol:
ZMYM3
ZMYM3
0.330
Biomarker
disease
GENOMICS_ENGLAND
Cloning and characterization of DXS6673E , a candidate gene for X-linked mental retardation in Xq13.1.
8817323
1996
×
Entrez Id:
254065
Gene Symbol:
BRWD3
BRWD3
0.310
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
347344
Gene Symbol:
ZNF81
ZNF81
0.310
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
9459
Gene Symbol:
ARHGEF6
ARHGEF6
0.310
Biomarker
disease
GENOMICS_ENGLAND
Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation .
11017088
2000
×
Entrez Id:
7504
Gene Symbol:
XK
XK
0.300
Biomarker
disease
GENOMICS_ENGLAND
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
19377476
2009
IL1RAPL1
0.580
Biomarker
disease
LHGDN
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
19012350
2008
×
Entrez Id:
641339
Gene Symbol:
ZNF674
ZNF674
0.510
Biomarker
disease
LHGDN
We characterized the complete ZNF674 gene structure and subsequently tested an additional 306 patients with XLMR for mutations by direct sequencing.
16385466
2006
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
0.400
GeneticVariation
disease
LHGDN
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1 ) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
15024694
2004
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
0.400
GeneticVariation
disease
LHGDN
These observations contribute to the phenotypic knowledge of patients with PQBP1 mutations and make this XLMR syndrome well recognizable to clinicians.
15355434
2004
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
0.400
GeneticVariation
disease
LHGDN
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation .
14634649
2003
×
Entrez Id:
4983
Gene Symbol:
OPHN1
OPHN1
0.400
GeneticVariation
disease
LHGDN
Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group.
16221952
2005
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
0.370
Biomarker
disease
LHGDN
We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by the European XLMR Consortium.
15154114
2004
×
Entrez Id:
6535
Gene Symbol:
SLC6A8
SLC6A8
0.370
GeneticVariation
disease
LHGDN
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8 ) located in Xq28.
11898126
2002
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.340
GeneticVariation
disease
LHGDN
The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus.
15574732
2004
×
Entrez Id:
186
Gene Symbol:
AGTR2
AGTR2
0.320
GeneticVariation
disease
LHGDN
AGTR2 mutations in X-linked mental retardation .
12089445
2002
×
Entrez Id:
186
Gene Symbol:
AGTR2
AGTR2
0.320
GeneticVariation
disease
LHGDN
Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation .
16283672
2005
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
0.310
GeneticVariation
disease
LHGDN
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
11940089
2002